A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962127



Internal ID22737068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236687840..236687840hg38UCSC Ensembl
chr2:237596483..237596483hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409496
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962127
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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